A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269839



Internal ID22136236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:65987840..66046719hg38UCSC Ensembl
OuterchrX:65207682..65266561hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3858880
hg1958880
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206728
Supporting Variants
SamplesHG00513
Known GenesMIR223, VSIG4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269839
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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